DisGeNET - a database of gene-disease associations

Lobstein Disease, C0023931

Variant: rs67865220 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

28810924

2017

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

27510842

2017

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

28498836

2017

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

27519266

2016

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

27748872

2016

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Genetics of Osteoporosis in Children.

26138843

2015

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

25944380

2015

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

24501682

2013

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

21667357

2012

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

22206639

2011

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Collagen structure and stability.

19344236

2009

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

17078022

2007

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

The human type I collagen mutation database.

9016532

1997

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

8829649

1996

dbSNP:

rs67865220

COL1A2

0.700

CausalMutation

CLINVAR

Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

7695699

1994

dbSNP: